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SMG7 SMG7 nonsense mediated mRNA decay factor [ Homo sapiens (human) ]

Gene ID: 9887, updated on 5-Mar-2024

Summary

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Official Symbol
SMG7provided by HGNC
Official Full Name
SMG7 nonsense mediated mRNA decay factorprovided by HGNC
Primary source
HGNC:HGNC:16792
See related
Ensembl:ENSG00000116698 MIM:610964; AllianceGenome:HGNC:16792
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EST1C; SGA56M; C1orf16
Summary
This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in testis (RPKM 30.4), bone marrow (RPKM 12.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q25.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (183472499..183554191)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182831784..182913482)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183441634..183523326)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183247773-183248584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183248585-183249395 Neighboring gene nicotinamide nucleotide adenylyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2213 Neighboring gene RPS3A pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183271685-183272658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183272659-183273632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183300194-183300759 Neighboring gene Sharpr-MPRA regulatory region 8277 Neighboring gene uncharacterized LOC105371646 Neighboring gene MPRA-validated peak501 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183440685-183441316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2214 Neighboring gene SMG7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2215 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:183540266-183540431 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2218 Neighboring gene neutrophil cytosolic factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183568525-183569024 Neighboring gene Sharpr-MPRA regulatory region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2220 Neighboring gene NCF2-ARPC5 intergenic ENCODE-defined enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183604114-183604614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2221 Neighboring gene actin related protein 2/3 complex subunit 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death. Song X, et al. Cancer Epidemiol Biomarkers Prev, 2022 Jul 1. PMID 35511739, Free PMC Article
  2. Frameshift Mutations of SMG7 Essential for Nonsense-Mediated mRNA Decay in Gastric and Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2017 Jan. PMID 27771886
  3. SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Boehm V, et al. Nat Commun, 2021 Jun 25. PMID 34172724, Free PMC Article
  4. Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates. Ottens F, et al. RNA, 2017 Aug. PMID 28461625, Free PMC Article
  5. Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways. Colombo M, et al. RNA, 2017 Feb. PMID 27864472, Free PMC Article

See all (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
    Title: SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
  2. Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress.
    Title: Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress.
  3. Nonsense-mediated decay factor SMG7 sensitizes cells to TNFalpha-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1.
    Title: Nonsense-mediated decay factor SMG7 sensitizes cells to TNFα-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1.
  4. SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
    Title: SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
  5. Characterization of SMG7 14-3-3-like domain reveals phosphoserine binding-independent regulation of p53 and UPF1.
    Title: Characterization of SMG7 14-3-3-like domain reveals phosphoserine binding-independent regulation of p53 and UPF1.
  6. in gastric and colorectal cancers, study found SMG7 somatic mutations, which consisted of frameshift mutations by a deletion (c.2454delA (p. Met849fsx1) and a duplication (c.2545dupA (p. Met849Asnfsx10)) within the repeat
    Title: Frameshift Mutations of SMG7 Essential for Nonsense-Mediated mRNA Decay in Gastric and Colorectal Cancers.
  7. Nonsense-mediated mRNA decay (NMD) substrates with PTCs undergo constitutive SMG6-dependent endocleavage, rather than SMG7-dependent exonucleolytic decay. In contrast, the turnover of NMD substrates containing upstream ORFs and long 3' UTRs involves both SMG6- and SMG7-dependent endo- and exonucleolytic decay, respectively; extent to which SMG6 and SMG7 degrade NMD substrates is determined by the mRNA architecture.
    Title: Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates.
  8. Transcriptome-wide identification of nonsense-mediated mRNA decay-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.
    Title: Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.
  9. We showed SMG7 mRNA levels in peripheral blood mononuclear cells correlated inversely with antinuclear antibody titres of patients with systemic lupus erythematosus. The inverse relationship between levels of the risk allele-associated SMG7 mRNAs and antinuclear antibody suggested the novel contribution of mRNA surveillance pathway to systemic lupus erythematosus pathogenesis.
    Title: Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
  10. Depletion of nonsense-mediated mRNA decay pathway components Upf1, Smg5, and Smg7 led to increased levels of viral proteins and and virus release.
    Title: The host nonsense-mediated mRNA decay pathway restricts Mammalian RNA virus replication.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23717, KIAA0250

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase 2A binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables telomerase RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA export from nucleus TAS
Traceable Author Statement
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of dephosphorylation TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of telomerase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
nonsense-mediated mRNA decay factor SMG7
Names
EST1 telomerase component homolog C
EST1-like protein C
breast cancer-associated antigen SGA-56M
ever shorter telomeres 1C
smg-7 homolog, nonsense mediated mRNA decay factor
NP_001167532.1
NP_001317936.1
NP_001337148.1
NP_001337149.1
NP_001337150.1
NP_001362513.1
NP_001362514.1
NP_001381062.1
NP_001381063.1
NP_001381064.1
NP_001381065.1
NP_001381066.1
NP_001381067.1
NP_001381068.1
NP_001381069.1
NP_001381070.1
NP_001381071.1
NP_001381072.1
NP_001381073.1
NP_001381074.1
NP_001381075.1
NP_001381076.1
NP_775179.1
NP_963862.1
NP_963863.2
XP_005245710.1
XP_011508507.1
XP_011508508.1
XP_011508509.1
XP_047291697.1
XP_047291705.1
XP_054195856.1
XP_054195857.1
XP_054195858.1
XP_054195859.1
XP_054195860.1
XP_054195861.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029808.1 RefSeqGene

    Range
    5129..86821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174061.2 → NP_001167532.1  nonsense-mediated mRNA decay factor SMG7 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AB085674, AK299178, CN479993, DB223038
    Consensus CDS
    CCDS53445.1
    UniProtKB/Swiss-Prot
    Q92540
    Related
    ENSP00000426915.1, ENST00000508461.5
    Conserved Domains (3) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:129 → 389
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:13 → 125
    EST1; Telomerase activating protein Est1

  2. NM_001331007.2 → NP_001317936.1  nonsense-mediated mRNA decay factor SMG7 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence, uses an alternate in-frame splice junction, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (6) has a longer and distinct N-terminus, contains an alternate internal segment, and lacks another alternate internal segment compared to isoform 1. Variants 6 and 9 encode the same protein (isoform 6).
    Source sequence(s)
    AL137800, AL449223
    Consensus CDS
    CCDS81410.1
    UniProtKB/TrEMBL
    E9PD50
    Related
    ENSP00000356507.3, ENST00000367537.7
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  3. NM_001350219.2 → NP_001337148.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AB085674, AL137800, CN479993, D87437, DB223038, DC341780
    Conserved Domains (4) summary
    PHA03247
    Location:581 → 883
    PHA03247; large tegument protein UL36; Provisional
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  4. NM_001350220.2 → NP_001337149.1  nonsense-mediated mRNA decay factor SMG7 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AB085674, AL137800, CN479993, CR995963, D87437, DA057117, DA238539, DB223038, DC341780
    Consensus CDS
    CCDS91124.1
    UniProtKB/TrEMBL
    A0A8I5KSL3
    Related
    ENSP00000508915.1, ENST00000685780.1
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  5. NM_001350221.2 → NP_001337150.1  nonsense-mediated mRNA decay factor SMG7 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AB085674, AL137800, CN479993, D87437, DA096344, DB223038, DC341780
    Consensus CDS
    CCDS81410.1
    UniProtKB/TrEMBL
    E9PD50
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  6. NM_001375584.1 → NP_001362513.1  nonsense-mediated mRNA decay factor SMG7 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Consensus CDS
    CCDS91123.1
    UniProtKB/TrEMBL
    A0A8I5KYV3
    Related
    ENSP00000510175.1, ENST00000688051.1
    Conserved Domains (3) summary
    sd00006
    Location:154 → 180
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:171 → 431
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:55 → 167
    EST1; Telomerase activating protein Est1

  7. NM_001375585.1 → NP_001362514.1  nonsense-mediated mRNA decay factor SMG7 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:154 → 180
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:171 → 431
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:55 → 167
    EST1; Telomerase activating protein Est1

  8. NM_001394133.1 → NP_001381062.1  nonsense-mediated mRNA decay factor SMG7 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Consensus CDS
    CCDS91124.1
    UniProtKB/TrEMBL
    A0A8I5KSL3
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  9. NM_001394134.1 → NP_001381063.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  10. NM_001394135.1 → NP_001381064.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  11. NM_001394136.1 → NP_001381065.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  12. NM_001394137.1 → NP_001381066.1  nonsense-mediated mRNA decay factor SMG7 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Consensus CDS
    CCDS53445.1
    Conserved Domains (3) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:129 → 389
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:13 → 125
    EST1; Telomerase activating protein Est1

  13. NM_001394138.1 → NP_001381067.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (4) summary
    PHA03247
    Location:581 → 883
    PHA03247; large tegument protein UL36; Provisional
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  14. NM_001394139.1 → NP_001381068.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (4) summary
    PHA03247
    Location:581 → 883
    PHA03247; large tegument protein UL36; Provisional
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  15. NM_001394140.1 → NP_001381069.1  nonsense-mediated mRNA decay factor SMG7 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:136 → 162
    TPR; TPR repeat [structural motif]

  16. NM_001394141.1 → NP_001381070.1  nonsense-mediated mRNA decay factor SMG7 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:129 → 389
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:13 → 125
    EST1; Telomerase activating protein Est1

  17. NM_001394142.1 → NP_001381071.1  nonsense-mediated mRNA decay factor SMG7 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]

  18. NM_001394143.1 → NP_001381072.1  nonsense-mediated mRNA decay factor SMG7 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]

  19. NM_001394144.1 → NP_001381073.1  nonsense-mediated mRNA decay factor SMG7 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:98 → 124
    TPR; TPR repeat [structural motif]

  20. NM_001394145.1 → NP_001381074.1  nonsense-mediated mRNA decay factor SMG7 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:136 → 162
    TPR; TPR repeat [structural motif]

  21. NM_001394146.1 → NP_001381075.1  nonsense-mediated mRNA decay factor SMG7 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (1) summary
    sd00006
    Location:136 → 162
    TPR; TPR repeat [structural motif]

  22. NM_001394147.1 → NP_001381076.1  nonsense-mediated mRNA decay factor SMG7 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AL137800, AL449223
    Conserved Domains (3) summary
    sd00006
    Location:112 → 138
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:129 → 389
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:13 → 125
    EST1; Telomerase activating protein Est1

  23. NM_173156.3 → NP_775179.1  nonsense-mediated mRNA decay factor SMG7 isoform 1

    See identical proteins and their annotated locations for NP_775179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB085674, AY386363, CN479993, DB223038, DC380923
    Consensus CDS
    CCDS1355.1
    UniProtKB/Swiss-Prot
    B4DRB2, E9PCI0, E9PEH2, Q5T1Q0, Q6PIE0, Q7Z7H9, Q8IXC1, Q8IXC2, Q92540
    Related
    ENSP00000340766.2, ENST00000347615.6
    Conserved Domains (3) summary
    sd00006
    Location:154 → 180
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:171 → 431
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:55 → 167
    EST1; Telomerase activating protein Est1

  24. NM_201568.3 → NP_963862.1  nonsense-mediated mRNA decay factor SMG7 isoform 2

    See identical proteins and their annotated locations for NP_963862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB085674, CN479993, D87437, DB223038, DC380923
    Consensus CDS
    CCDS53444.1
    UniProtKB/Swiss-Prot
    Q92540
    Related
    ENSP00000421358.2, ENST00000515829.6
    Conserved Domains (3) summary
    sd00006
    Location:154 → 180
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:171 → 431
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:55 → 167
    EST1; Telomerase activating protein Est1

  25. NM_201569.3 → NP_963863.2  nonsense-mediated mRNA decay factor SMG7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AB085674, AK299178, AL137800, BC036381, CN479993, DB223038
    Consensus CDS
    CCDS41445.2
    UniProtKB/Swiss-Prot
    Q92540
    Related
    ENSP00000425133.1, ENST00000507469.5
    Conserved Domains (3) summary
    sd00006
    Location:154 → 180
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:171 → 431
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:55 → 167
    EST1; Telomerase activating protein Est1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    183472499..183554191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510205.4 → XP_011508507.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

    See identical proteins and their annotated locations for XP_011508507.1

    UniProtKB/TrEMBL
    A0A8I5KSL3
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  2. XM_011510206.4 → XP_011508508.1  nonsense-mediated mRNA decay factor SMG7 isoform X2

    See identical proteins and their annotated locations for XP_011508508.1

    UniProtKB/TrEMBL
    E9PD50
    Conserved Domains (3) summary
    sd00006
    Location:183 → 209
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:200 → 460
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:84 → 196
    EST1; Telomerase activating protein Est1

  3. XM_011510207.4 → XP_011508509.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

    See identical proteins and their annotated locations for XP_011508509.1

    Conserved Domains (3) summary
    sd00006
    Location:136 → 162
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:153 → 413
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:37 → 149
    EST1; Telomerase activating protein Est1

  4. XM_047435741.1 → XP_047291697.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KSL3

  5. XM_005245653.6 → XP_005245710.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

    See identical proteins and their annotated locations for XP_005245710.1

    Conserved Domains (3) summary
    sd00006
    Location:136 → 162
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:153 → 413
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:37 → 149
    EST1; Telomerase activating protein Est1

  6. XM_047435749.1 → XP_047291705.1  nonsense-mediated mRNA decay factor SMG7 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    182831784..182913482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339881.1 → XP_054195856.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KSL3

  2. XM_054339882.1 → XP_054195857.1  nonsense-mediated mRNA decay factor SMG7 isoform X2

    UniProtKB/TrEMBL
    E9PD50

  3. XM_054339884.1 → XP_054195859.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

  4. XM_054339883.1 → XP_054195858.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

  5. XM_054339885.1 → XP_054195860.1  nonsense-mediated mRNA decay factor SMG7 isoform X5

    UniProtKB/TrEMBL
    Q6TV06

  6. XM_054339886.1 → XP_054195861.1  nonsense-mediated mRNA decay factor SMG7 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001350222.2: Suppressed sequence

    Description
    NM_001350222.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  2. NM_014837.3: Suppressed sequence

    Description
    NM_014837.3: This RefSeq was permanently suppressed because it has a non-consensus splice site that does't have any mRNA support.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92540.2 GenPept UniProtKB/Swiss-Prot:Q92540

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